ENSG00000206503


Homo sapiens

Features
Gene ID: ENSG00000206503
  
Biological name :HLA-A
  
Synonyms : HLA-A / major histocompatibility complex, class I, A / P04439 / P13746 / P16188
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: p22.1
Gene start: 29941260
Gene end: 29945884
  
Corresponding Affymetrix probe sets: 213932_x_at (Human Genome U133 Plus 2.0 Array)   215313_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000366005
Ensembl peptide - ENSP00000492789
Ensembl peptide - ENSP00000379873
Ensembl peptide - ENSP00000365998
Ensembl peptide - ENSP00000366002
NCBI entrez gene - 3105     See in Manteia.
OMIM - 142800
RefSeq - NM_002116
RefSeq Peptide - NP_002107
swissprot - P04439
swissprot - P13746
swissprot - P16188
swissprot - Q5SRN5
swissprot - B1PKY1
swissprot - Q5SRN7
swissprot - A0A1W2PS24
Ensembl - ENSG00000206503
  
Related genetic diseases (OMIM): 608579 - {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Gm11127ENSMUSG00000079492Mus musculus
 Gm7030ENSMUSG00000092243Mus musculus
 Gm8909ENSMUSG00000073402Mus musculus
 H2-BlENSMUSG00000073406Mus musculus
 H2-D1ENSMUSG00000073411Mus musculus
 H2-K1ENSMUSG00000061232Mus musculus
 H2-M1ENSMUSG00000037334Mus musculus
 H2-M11ENSMUSG00000037537Mus musculus
 H2-M2ENSMUSG00000016283Mus musculus
 H2-M3ENSMUSG00000016206Mus musculus
 H2-M5ENSMUSG00000024459Mus musculus
 H2-M9ENSMUSG00000067201Mus musculus
 H2-Q1ENSMUSG00000079507Mus musculus
 H2-Q10ENSMUSG00000067235Mus musculus
 H2-Q2ENSMUSG00000091705Mus musculus
 H2-Q4ENSMUSG00000035929Mus musculus
 H2-Q5ENSMUSG00000055413Mus musculus
 H2-Q6ENSMUSG00000073409Mus musculus
 H2-Q7ENSMUSG00000060550Mus musculus
 H2-T23ENSMUSG00000067212Mus musculus
 H2-T3ENSMUSG00000054128Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HLA-B / P30480 / P30486 / Q29836 / Q31610 / Q31612 / P01889 / major histocompatibility complex, class I, BENSG0000023474585
HLA-C / P10321 / major histocompatibility complex, class I, CENSG0000020452581
HLA-F / P30511 / major histocompatibility complex, class I, FENSG0000020464278
HLA-E / major histocompatibility complex, class I, EENSG0000020459277
HLA-G / P17693 / major histocompatibility complex, class I, GENSG0000020463277


Protein motifs (from Interpro)
Interpro ID Name
 IPR001039  MHC class I alpha chain, alpha1 alpha2 domains
 IPR003006  Immunoglobulin/major histocompatibility complex, conserved site
 IPR003597  Immunoglobulin C1-set
 IPR007110  Immunoglobulin-like domain
 IPR010579  MHC class I, alpha chain, C-terminal
 IPR011161  MHC class I-like antigen recognition-like
 IPR011162  MHC classes I/II-like antigen recognition protein
 IPR013783  Immunoglobulin-like fold
 IPR021157  Cytochrome c1, transmembrane anchor, C-terminal
 IPR036179  Immunoglobulin-like domain superfamily
 IPR037055  MHC class I-like antigen recognition-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0002474 antigen processing and presentation of peptide antigen via MHC class I IEA
 biological_processGO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
 biological_processGO:0002480 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent TAS
 biological_processGO:0006955 immune response IEA
 biological_processGO:0016032 viral process IEA
 biological_processGO:0016567 protein ubiquitination TAS
 biological_processGO:0019882 antigen processing and presentation IEA
 biological_processGO:0042270 protection from natural killer cell mediated cytotoxicity IDA
 biological_processGO:0050776 regulation of immune response TAS
 biological_processGO:0060333 interferon-gamma-mediated signaling pathway TAS
 biological_processGO:0060337 type I interferon signaling pathway TAS
 cellular_componentGO:0000139 Golgi membrane TAS
 cellular_componentGO:0005783 endoplasmic reticulum ISS
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0005794 Golgi apparatus ISS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane NAS
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0012507 ER to Golgi transport vesicle membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030670 phagocytic vesicle membrane TAS
 cellular_componentGO:0031901 early endosome membrane TAS
 cellular_componentGO:0042612 MHC class I protein complex IEA
 cellular_componentGO:0055038 recycling endosome membrane TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0071556 integral component of lumenal side of endoplasmic reticulum membrane TAS
 molecular_functionGO:0030881 beta-2-microglobulin binding ISS
 molecular_functionGO:0042605 peptide antigen binding IDA
 molecular_functionGO:0046977 TAP binding IDA


Pathways (from Reactome)
Pathway description
ER-Phagosome pathway
Endosomal/Vacuolar pathway
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Interferon gamma signaling
E3 ubiquitin ligases ubiquitinate target proteins
Interferon alpha/beta signaling
Antigen Presentation: Folding, assembly and peptide loading of class I MHC


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0000532 Chorioretinal abnormality 
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 HP:0000541 Detached retina 
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 HP:0000543 Pale optic disks 
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 HP:0000572 Visual loss 
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 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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 HP:0000622 Blurred vision 
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 HP:0007843 Attenuation of retinal blood vessels 
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 HP:0007906 Increased intraocular pressure 
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 HP:0011505 Cystoid macular edema "Cystoid macular edema (CME) is any type of macular edema that involves cyst formation." [DDD:ncarter]
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 HP:0011506 Choroidal neovascularization of the macula "Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye." [DDD:ncarter]
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 HP:0011508 Macular hole "A macular hole is a small break in the macula, located in the center of the retina." [DDD:ncarter]
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 HP:0011531 Vitreitis "Inflammation of the vitreous body." [HPO:probinson]
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 HP:0030329 Retinal thinning "Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT)." [HPO:probinson]
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 HP:0030530 Arcuate scotoma 
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 HP:0030609 Photoreceptor layer loss on macular OCT "Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography." [HPO:probinson]
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 HP:0030644 Blind-spot enlargment 
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 HP:0100014 Epiretinal membrane "An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy." [HPO:sdoelken]
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 HP:0100533 Inflammatory abnormality of the eye "Inflammation of the eye, parts of the eye or the periorbital region." [HPO:sdoelken]
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 HP:0100832 Mouches volantes "Deposits of various size, shape, consistency, refractive index, and motility within the eye s vitreous humour, which is normally transparent." [HPO:sdoelken]
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 HP:0200056 Macular scarring 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000240403 P43630 / KIR3DL2 / killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2  / reaction / complex
 ENSG00000166710 B2M / P61769 / beta-2-microglobulin  / complex






 

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